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AKU Secures Grant to Research on Major Genetic Disorders


The Agha Khan University’s Research Center has secured a grant of Rs159.60 million. The grant would help them find a cure for two of the most common genetic disorders – beta-thalassemia and sickle cell anemia. It has been estimated that there are over 100,000 transfusion-dependent thalassemia patients in Pakistan currently. Moreover, there are more than 5000 babies born every year with the same disorder. Whereas, sickle-cell disease is another major genetic disorder that is the leading cause of anemia in the country.

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Currently, the only cure for the disease is through blood transfusion or bone marrow transports. Both these procedures come with their own set of side effects. Blood transfusions can lead to an overload of iron as well as organ damage. Moreover, the treatment is expensive and comes with a number of risks for the patients. Keeping in view these issues, researchers are trying to look for a cure that would help overcome this disease.

“Our research aims to find an innovative, less-invasive and more affordable cure for these common genetic diseases,” Dr Afsar Mian of AKU’s Centre for Regenerative Medicine and Stem Cell Research (CRM)

“Our team will be among the few researchers around the globe who are working on developing this gene editing approach. Better still, conducting this study in Pakistan will help build local capacity and solutions, instead of waiting for treatments from elsewhere.”

The AKU team will be working on gene-silencing and use the gene-editing tool approach which will help to suppress the BCL11A gene that will eventually inhibit fetal hemoglobin production.

“This potential therapy could provide a permanent cure, bypassing the need for bone marrow transplant and blood transfusion,” said Professor El-Nasir Lalani, founding director of CRM.

The team includes some renowned personalities in the research field such as Dr. Afsar Mian, Salma Jahan, Hammad Hassan and Mohammed Yusuf from CRM and international collaborators from the University of California, San Francisco, the Norwegian University of Science and Technology and Cardiff University in the UK.

The HEC Grand Challenge Fund was launched in 2020 and is supported by The World Bank. Out of 700 applicants, CRM was among five winning recipients.

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